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A Quality Assessment of the ARM-Net Registry Design and Data Collection.
Hageman IC, van der Steeg HJJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij IALM; ARM-Net Consortium. Hageman IC, et al. Among authors: van rooij ialm. J Pediatr Surg. 2023 Oct;58(10):1921-1928. doi: 10.1016/j.jpedsurg.2023.02.049. Epub 2023 Feb 25. J Pediatr Surg. 2023. PMID: 37045715 Free article.
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. Wijers CH, et al. Pediatr Surg Int. 2010 Nov;26(11):1093-9. doi: 10.1007/s00383-010-2688-0. Pediatr Surg Int. 2010. PMID: 20730541 Free PMC article.
Bias in patient series with VACTERL association.
Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IA. Jenetzky E, et al. Am J Med Genet A. 2011 Aug;155A(8):2039-41; author reply 2042-3. doi: 10.1002/ajmg.a.33983. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739573 No abstract available.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rissmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H. Dworschak GC, et al. Am J Med Genet A. 2013 Dec;161A(12):3035-41. doi: 10.1002/ajmg.a.36153. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038947
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Saisawat P, et al. Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23. Kidney Int. 2014. PMID: 24152966 Free PMC article.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA. Wijers CH, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):483-92. doi: 10.1002/bdra.23256. Epub 2014 May 20. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24841934
106 results